Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22317 | 67174;67175;67176 | chr2:178580430;178580429;178580428 | chr2:179445157;179445156;179445155 |
| N2AB | 20676 | 62251;62252;62253 | chr2:178580430;178580429;178580428 | chr2:179445157;179445156;179445155 |
| N2A | 19749 | 59470;59471;59472 | chr2:178580430;178580429;178580428 | chr2:179445157;179445156;179445155 |
| N2B | 13252 | 39979;39980;39981 | chr2:178580430;178580429;178580428 | chr2:179445157;179445156;179445155 |
| Novex-1 | 13377 | 40354;40355;40356 | chr2:178580430;178580429;178580428 | chr2:179445157;179445156;179445155 |
| Novex-2 | 13444 | 40555;40556;40557 | chr2:178580430;178580429;178580428 | chr2:179445157;179445156;179445155 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.999 | N | 0.639 | 0.477 | 0.204665344411 | gnomAD-4.0.0 | 6.84426E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99672E-07 | 0 | 0 |
| T/P | None | None | 1.0 | N | 0.841 | 0.527 | 0.291694819147 | gnomAD-4.0.0 | 6.84426E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73611E-04 | 0 | 0 | 0 |
| T/S | None | None | 0.999 | N | 0.641 | 0.349 | 0.192905019026 | gnomAD-4.0.0 | 1.59248E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43308E-05 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.4477 | ambiguous | 0.474 | ambiguous | -1.173 | Destabilizing | 0.999 | D | 0.639 | neutral | N | 0.506346506 | None | None | N |
| T/C | 0.8244 | likely_pathogenic | 0.8476 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| T/D | 0.9866 | likely_pathogenic | 0.9896 | pathogenic | -2.12 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| T/E | 0.9927 | likely_pathogenic | 0.9942 | pathogenic | -1.797 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| T/F | 0.9896 | likely_pathogenic | 0.9923 | pathogenic | -0.724 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| T/G | 0.8681 | likely_pathogenic | 0.8835 | pathogenic | -1.648 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| T/H | 0.9765 | likely_pathogenic | 0.9812 | pathogenic | -1.655 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| T/I | 0.9254 | likely_pathogenic | 0.943 | pathogenic | 0.132 | Stabilizing | 1.0 | D | 0.837 | deleterious | N | 0.477733162 | None | None | N |
| T/K | 0.9933 | likely_pathogenic | 0.9954 | pathogenic | -0.139 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| T/L | 0.8372 | likely_pathogenic | 0.8694 | pathogenic | 0.132 | Stabilizing | 0.999 | D | 0.728 | prob.delet. | None | None | None | None | N |
| T/M | 0.7726 | likely_pathogenic | 0.792 | pathogenic | -0.235 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| T/N | 0.8882 | likely_pathogenic | 0.9067 | pathogenic | -1.306 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.456287999 | None | None | N |
| T/P | 0.9826 | likely_pathogenic | 0.9878 | pathogenic | -0.277 | Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.47874712 | None | None | N |
| T/Q | 0.9818 | likely_pathogenic | 0.9859 | pathogenic | -0.761 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| T/R | 0.9889 | likely_pathogenic | 0.9921 | pathogenic | -0.772 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| T/S | 0.3668 | ambiguous | 0.3731 | ambiguous | -1.461 | Destabilizing | 0.999 | D | 0.641 | neutral | N | 0.467846833 | None | None | N |
| T/V | 0.7483 | likely_pathogenic | 0.7819 | pathogenic | -0.277 | Destabilizing | 0.999 | D | 0.643 | neutral | None | None | None | None | N |
| T/W | 0.9985 | likely_pathogenic | 0.9989 | pathogenic | -1.073 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| T/Y | 0.9887 | likely_pathogenic | 0.9918 | pathogenic | -0.607 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.